In this study, we identified the most influential references based on citation frequency, which have played an essential role in laying the foundation for scholarship in the field Tartaglia et al. (2001) first found that missense mutations in PTPN11 can cause NS and pointed out that the pathogenesis of this disease is caused by excessive non-receptor-type protein tyrosine phosphatase activity, which has pioneered the study of the gene of NS and has become an indispensable citation in subsequent NS research. Here, PTPN11 is linked to Netherton syndrome.